Linked Data
ClinVar Variation Id:
2224578
ClinVar RCV Id:
RCV002683465
dbSNP Id:
rs553846662
ExAC:
5:7878077 C / T
gnomAD v2:
5-7878077-C-T
gnomAD v3:
5-7877964-C-T
gnomAD v4:
5-7877964-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.7877964C>T , CM000667.2:g.7877964C>T | GRCh38 |
| NC_000005.9:g.7878077C>T , CM000667.1:g.7878077C>T | GRCh37 |
| NC_000005.8:g.7931077C>T | NCBI36 |
| NG_008856.1:g.13861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000440940.7:c.422C>T MANE Select | ENSP00000402510.2:p.Pro141Leu | |
| ENST00000264668.6:c.503C>T | ENSP00000264668.2:p.Pro168Leu | |
| ENST00000440940.6:c.422C>T | ENSP00000402510.2:p.Pro141Leu | |
| ENST00000502509.5:n.637C>T | ||
| ENST00000502550.5:c.422C>T | ENSP00000424599.1:p.Pro141Leu | |
| ENST00000503550.5:c.*357C>T | ENSP00000424644.1:n.*357C>T | |
| ENST00000508047.5:c.475C>T | ||
| ENST00000508890.1:n.235C>T | ||
| ENST00000510279.5:c.*91C>T | ENSP00000427200.1:n.*91C>T | |
| ENST00000510525.5:c.447C>T | ||
| ENST00000511461.5:c.335C>T | ||
| ENST00000513439.5:c.*129C>T | ENSP00000426710.1:n.*129C>T | |
| ENST00000514220.5:c.207C>T | ||
| ENST00000514369.5:c.*86C>T | ENSP00000426132.1:n.*86C>T | |
| NM_002454.2:c.422C>T | NP_002445.2:p.Pro141Leu | |
| NM_024010.2:c.503C>T | NP_076915.2:p.Pro168Leu | |
| XM_006714474.2:c.503C>T | XP_006714537.1:p.Pro168Leu | |
| XM_011514043.1:c.503C>T | XP_011512345.1:p.Pro168Leu | |
| XM_011514044.1:c.422C>T | XP_011512346.1:p.Pro141Leu | |
| XM_011514045.1:c.503C>T | XP_011512347.1:p.Pro168Leu | |
| XR_241702.1:n.525C>T | ||
| XR_241703.1:n.518C>T | ||
| XR_925614.1:n.525C>T | ||
| XR_925615.1:n.525C>T | ||
| NM_001364440.1:c.422C>T | NP_001351369.1:p.Pro141Leu | |
| NM_001364441.1:c.422C>T | NP_001351370.1:p.Pro141Leu | |
| NM_001364442.1:c.422C>T | NP_001351371.1:p.Pro141Leu | |
| NM_024010.3:c.422C>T | NP_076915.3:p.Pro141Leu | |
| NR_134480.1:n.545C>T | ||
| NR_134481.1:n.559C>T | ||
| NR_134482.1:n.405C>T | ||
| NR_157168.1:n.475C>T | ||
| NR_157169.1:n.335C>T | ||
| NR_157170.1:n.361C>T | ||
| NR_157171.1:n.335C>T | ||
| NR_157172.1:n.361C>T | ||
| NR_157173.1:n.489C>T | ||
| NR_157174.1:n.361C>T | ||
| NR_157175.1:n.515C>T | ||
| NR_157176.1:n.515C>T | ||
| NR_157177.1:n.510C>T | ||
| NR_157178.1:n.515C>T | ||
| XM_024446063.1:c.467C>T | XP_024301831.1:p.Pro156Leu | |
| XM_024446064.1:c.422C>T | XP_024301832.1:p.Pro141Leu | |
| XR_001742071.1:n.525C>T | ||
| XR_001742072.1:n.525C>T | ||
| XR_001742074.1:n.525C>T | ||
| XR_001742075.1:n.525C>T | ||
| XR_001742076.1:n.525C>T | ||
| XR_001742077.1:n.525C>T | ||
| NM_001364440.2:c.422C>T | NP_001351369.1:p.Pro141Leu | |
| NM_001364441.2:c.422C>T | NP_001351370.1:p.Pro141Leu | |
| NM_001364442.2:c.422C>T | NP_001351371.1:p.Pro141Leu | |
| NM_002454.3:c.422C>T MANE Select | NP_002445.2:p.Pro141Leu | |
| NM_024010.4:c.422C>T | NP_076915.3:p.Pro141Leu | |
| NR_134480.2:n.501C>T | ||
| NR_134481.2:n.515C>T | ||
| NR_134482.2:n.361C>T | ||
| NR_157168.2:n.475C>T | ||
| NR_157169.2:n.335C>T | ||
| NR_157170.2:n.361C>T | ||
| NR_157171.2:n.335C>T | ||
| NR_157172.2:n.361C>T | ||
| NR_157173.2:n.489C>T | ||
| NR_157174.2:n.361C>T | ||
| NR_157175.2:n.515C>T | ||
| NR_157176.2:n.515C>T | ||
| NR_157177.2:n.510C>T | ||
| NR_157178.2:n.515C>T |